BST1

Chr 4

bone marrow stromal cell antigen 1

Also known as: CD157, cADPR2

NCBI Gene: 683 ENSG00000109743 UniProt: Q10588 OMIM: 600387

BST1 encodes bone marrow stromal cell antigen-1, which catalyzes the synthesis and hydrolysis of cyclic ADP-ribose from NAD+, serving as a second messenger that regulates intracellular calcium mobilization and facilitates pre-B-cell growth. Mutations cause autosomal recessive early-onset Parkinson disease, representing a rare monogenic form of parkinsonism in children and young adults. The gene shows minimal constraint against loss-of-function variants (pLI near zero), consistent with recessive inheritance where heterozygous carriers are typically unaffected.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.36

LOEUF

GOF

Mechanism· predicted

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